NORD^® Rare Disease Database

immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Also known as: DMSD, IDDM secretory diarrhea syndrome, IDDM secretory diarrhoea syndrome, IDDM-secretory diarrhea syndrome, IDDM-secretory diarrhoea syndrome, IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked, IPEX, IPEX syndrome, Iddm-secretory diarrhea syndrome, Iddm-secretory diarrhoea syndrome, Immunodysregulation, polyendocrinopathy and enteropathy X-linked, X linked polyendocrinopathy, X-linked autoimmunity-allergic dysregulation syndrome, XLAAD, XPID, autoimmune enteropathy type 1, autoimmunity-immunodeficiency syndrome X-linked, autoimmunity-immunodeficiency syndrome, X-linked, diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea, diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea, diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked, enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy, enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy, immune dysfunction and diarrhea syndrome, immune dysfunction and diarrhoea syndrome, immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome, immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly, immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive, islets of Langerhans, absence of, polyendocrinopathy, immune dysfunction and diarrhea X-linked, polyendocrinopathy, immune dysfunction and diarrhoea X-linked, polyendocrinopathy, immune dysfunction, and diarrhea, X-linked

Spondyloenchondrodysplasia with immune dysregulation

Also known as: Roifman Immunoskeletal syndrome, SEM, SPENCD, SPENCDI, Spondyloenchondrodysplasia with immune dysregulation, combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia, spondyloenchondrodysplasia, spondyloenchondrodysplasia with immune dysregulation, spondyloenchondromatosis, spondylometaphyseal dysplasia with combined immunodeficiency, spondylometaphyseal dysplasia with enchondromatous changes

growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant

Also known as: GHISID2, GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT, growth hormone insensitivity with immune dysregulation 2, autosomal dominant

autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Also known as: APLAID, AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated, autoinflammation, antibody deficiency, and immune dysregulation syndrome

immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

Also known as: IL10-related early-onset IBD, IL10-related early-onset inflammatory bowel disease, autosomal recessive early-onset IBD, autosomal recessive early-onset inflammatory bowel disease

autoimmune lymphoproliferative syndrome type 2A

Also known as: ALPS-CASP10, ALPS2A, CASP10 autoimmune lymphoproliferative syndrome, autoimmune lymphoproliferative syndrome caused by mutation in CASP10, autoimmune lymphoproliferative syndrome type IIA, autoimmune lymphoproliferative syndrome, type 2, autoimmune lymphoproliferative syndrome, type 2A, autoimmune lymphoproliferative syndrome, type II, autoimmune lymphoproliferative syndrome, type IIA, autoimmune lymphoproliferative syndrome-CASP10 variant, type 2 ALPS, type 2 autoimmune lymphoproliferative syndrome

autoimmune lymphoproliferative syndrome type 4

Also known as: ALPS type 4, ALPS type IV, ALPS4, NRAS autoimmune lymphoproliferative syndrome, RALD, RAS-associated autoimmune leukoproliferative disease, RAS-associated autoimmune leukoproliferative disorder, RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, autoimmune lymphoproliferative syndrome caused by mutation in NRAS, autoimmune lymphoproliferative syndrome type 4, autoimmune lymphoproliferative syndrome type IV, autoimmune lymphoproliferative syndrome, type 4

autoimmune lymphoproliferative syndrome type 1

Also known as: ALPS, Canale-Smith syndrome, autoimmune lymphoproliferative syndrome, autoimmune lymphoproliferative syndrome type 1, autoimmune lymphoproliferative syndrome, type 1A, autoimmune lymphoproliferative syndrome, type 1B, autoimmune lymphoproliferative syndrome, type I, autosomal dominant, autoimmune lymphoproliferative syndrome, type I, autosomal recessive, autoimmune lymphoproliferative syndrome, type IA, autoimmune lymphoproliferative syndrome, type IB

autoinflammation, immune dysregulation, and eosinophilia

Also known as: AIIDE, Atopic dermatitis, enteritis, colitis and eosinophilia, JAK1-associated autoinflammatory disease

immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome

growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Also known as: Laron syndrome due to postreceptor defect, Laron syndrome with immunodeficiency, Laron-like syndrome, growth hormone insensitivity due to postreceptor defect, growth hormone insensitivity with immunodeficiency, short stature due to STAT5b deficiency

familial cold autoinflammatory syndrome 3

Also known as: FACU, FCAS3, PLAID, PLCG2 familial cold autoinflammatory syndrome, PLCG2-associated antibody deficiency and immune dysregulation, antibody deficiency and immune dysregulation, PLCG2-associated, familial atypical cold urticaria, familial cold autoinflammatory syndrome 3, familial cold autoinflammatory syndrome caused by mutation in PLCG2, familial cold autoinflammatory syndrome type 3, familial cold urticaria with common variable immunodeficiency, plaid

autoimmune lymphoproliferative syndrome type 2B

Also known as: ALPS with recurrent viral infections, ALPS2B, CASP8 autoimmune lymphoproliferative syndrome, CEDS, Ceds, autoimmune lymphoproliferative syndrome caused by mutation in CASP8, autoimmune lymphoproliferative syndrome type IIB, autoimmune lymphoproliferative syndrome with recurrent viral infections, autoimmune lymphoproliferative syndrome, type 2B, autoimmune lymphoproliferative syndrome, type IIB, caspase 8 deficiency, caspase 8 deficiency syndrome, caspase eight deficiency state, caspase-8 deficiency

AIDS dementia complex

Also known as: ADC, ADC - Acquired immune deficiency syndrome dementia complex, AIDS - Acquired immune deficiency syndrome dementia complex, AIDS Dementia, AIDS Dementia Complex, AIDS Encephalopathies, AIDS Encephalopathy, AIDS RELAT DEMENTIA COMPLEX, AIDS dementia, AIDS dementia complex, AIDS related Dementia Complex, AIDS related cognitive impairment, AIDS with dementia (disorder), AIDS-related Dementia Complex, Acquired immune deficiency syndrome dementia complex, Acquired immune deficiency syndrome-related dementia, Acquired-Immune Deficiency Syndrome Dementia Complex, Complex, AIDS Dementia, Complex, AIDS-related Dementia, DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME, DEMENTIA COMPLEX AIDS RELAT, Dementia Complex, AIDS, Dementia Complex, AIDS related, Dementia Complex, AIDS-related, Dementia Complex, Acquired Immune Deficiency Syndrome, Dementia associated with AIDS, Dementia associated with acquired immunodeficiency syndrome, Dementia, HIV, Dementias, HIV, Encephalopathies, AIDS, Encephalopathies, HIV, Encephalopathy, AIDS, Encephalopathy, HIV, HIV 1 Associated Cognitive Motor Complex, HIV 1 Cognitive and Motor Complex, HIV ASSOC COGNITIVE MOTOR COMPLEX, HIV Associated Cognitive Motor Complex, HIV Dementia, HIV Dementias, HIV Encephalopathies, HIV Encephalopathy, HIV associated cognitive and motor complex, HIV encephalitis, HIV-1 Cognitive and Motor Complex, HIV-1-Associated Cognitive Motor Complex, HIV-Associated Cognitive Motor Complex, HIV-associated dementia, acquired immune deficiency syndrome dementia complex, acquired immune deficiency syndrome-related dementia

non-immune hydrops fetalis

Also known as: Haemoglobin H hydrops fetalis syndrome, Hemoglobin H hydrops fetalis syndrome, NIHF, hydrops fetalis, Alpha-thalassemia-related, hydrops fetalis, nonimmune, non-immune HF, non-immune fetal edema, non-immune fetal hydrops, non-immune foetal hydrops, non-immune foetal oedema

Dianzani autoimmune lymphoproliferative disease

Also known as: DALD, Dianzani autoimmune lymphoproliferative disease, Dianzani autoimmune lymphoproliferative syndrome, Dianzani form of autoimmune lymphoproliferative disease, autoimmune lymphoproliferative syndrome without FAS mutations

early-onset autoimmunity-autoinflammation-immunodeficiency syndrome

autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

Also known as: Evans syndrome associated with primary immunodeficiency, TPPII deficiency, TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease, triangle disease, tripeptidyl-peptidase II deficiency

immune hydrops fetalis

Also known as: IHF, immune HF, immune fetal edema, immune fetal hydrops, immune foetal hydrops, immune foetal oedema

PANDAS

Also known as: paediatric autoimmune disorders associated with Streptococcus infections, paediatric autoimmune neuropsychiatric disorder associated with Streptococcus, paediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections, paediatric autoimmune neuropsychiatric disorders associated with streptococcal infections, pediatric autoimmune disorders associated with Streptococcus infections, pediatric autoimmune neuropsychiatric disorder associated with Streptococcus, pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections

autoimmune thrombocytopenic purpura

Also known as: AITP, ITP, Werlhof's disease, autoimmune thrombocytopenic purpura, ideopath thrombocytopenic pur, idiopathic purpura, idiopathic thrombocytopenia, idiopathic thrombocytopenia purpura, idiopathic thrombocytopenic purpura, immune thrombocytopenia, immune thrombocytopenic purpura, primary thrombocytopenic purpura, thrombocytopenic purpura autoimmune, thrombocytopenic purpura, autoimmune